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Bilateral segmental neurofibromatosis: a case report and review.

Abstract
Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.
AuthorsGabriel Gonzalez, Maria Eugenia Russi, Amelia Lodeiros
JournalPediatric neurology (Pediatr Neurol) Vol. 36 Issue 1 Pg. 51-3 (Jan 2007) ISSN: 0887-8994 [Print] United States
PMID17162198 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Cafe-au-Lait Spots (genetics, pathology)
  • Child
  • Genes, Neurofibromatosis 1
  • Humans
  • Male
  • Mosaicism
  • Neurofibromatosis 1 (genetics, pathology)
  • Phenotype

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